D14N (p.Asp14Asn) variant of FANCA (Fanconi anemia group A protein)
D14N (p.Asp14Asn) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- gnomAD rs1239434360
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.02
- CADD 10.20
- PolyPhen-2 0.02
- SIFT 0.19
- Population evidence available
- Structural context available